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by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
by Milne, Roger L and Kuchenbaecker, Karoline B and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindström, Sara and Hui, Shirley and Lemaçon, Auey and Soucy, Penny and Dennis, Joe and Jiang, Xia and Rostamianfar, Asha and Finucane, Hilary and Bolla, Manjeet K and McGuffog, Lesley and Wang, Qin and Aalfs, Cora M and Adams, Marcia and Adlard, Julian and Agata, Simona and Ahmed, Shahana and Ahsan, Habibul and Aittomäki, Kristiina and Al-Ejeh, Fares and Allen, Jamie and Ambrosone, Christine B and Amos, Christopher I and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Auber, Bernd and Auer, Paul L and Ausems, Margreet G. E. M and Azzollini, Jacopo and Bacot, François and Balmaña, Judith and Barile, Monica and Barjhoux, Laure and Barkardottir, Rosa B and Barrdahl, Myrto and Barnes, Daniel and Barrowdale, Daniel and Baynes, Caroline and Beckmann, Matthias W and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Bignon, Yves-Jean and Blazer, Kathleen R and Blok, Marinus J and Blomqvist, Carl and Blot, William and Bobolis, Kristie and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Anders and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Bozsik, Aniko and Bradbury, Angela R and Brand, Judith S and Brauch, Hiltrud and Brenner, Hermann and Bressac-de Paillerets, Brigitte and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Brunet, Joan and Brüning, Thomas and Burwinkel, Barbara and Buys, Sauna S and Byun, Jinyoung and Cai, Qiuyin and Caldés, Trinidad and Caligo, Maria A and Campbell, Ian and Canzian, Federico and Caron, Olivier and Carracedo, Angel and Carter, Brian D and Castelao, J. Esteban and Castera, Laurent and Caux-Moncoutier, Virginie and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen J and Chen, Xiaoqing and Cheng, Ting-Yuan David and Chiquette, Jocelyne and Christiansen, Hans and Claes, Kathleen B. M and Clarke, Christine L and Conner, Thomas and Conroy, Don M and Cook, Jackie and ... and ABCTB Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab AOCS Investigators and NBSC Collaborators and kConFab/AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 12, pp. 1767 - 1778
Journal Article
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RISKS | GUIDELINES | SEQUENCE VARIANTS | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | FUNCTIONAL ASSAYS | GENETICS & HEREDITY | CLINGEN | OVARIAN | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology | Special
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 974 - 980
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnstonw, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Francis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and Gonzalez-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guenel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Durst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ...
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 371 - 384
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOG, we... 
Journal Article
by Mulligan, Anna Marie and Couch, Fergus J and Barrowdale, Daniel and Domchek, Susan M and Eccles, Diana and Nevanlinna, Heli and Ramus, Susan J and Robson, Mark and Sherman, Mark and Spurdle, Amanda B and Wappenschmidt, Barbara and Lee, Anew and McGuffog, Lesley and Healey, Sue and Sinilnikova, Olga M and Janavicius, Ramunas and Hansen, Thomas vO and Nielsen, Finn C and Ejlertsen, Bent and Osorio, Ana and Muñoz-Repeto, Iván and Durán, Mercedes and Godino, Javier and Pertesi, Maroulio and Benítez, Javier and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Cattaneo, Elisa and Bonanni, Bernardo and Viel, Alessana and Pasini, Barbara and Papi, Laura and Ottini, Laura and Savarese, Antonella and Bernard, Loris and Radice, Paolo and Hamann, Ute and Verheus, Martijn and Meijers-Heijboer, Hanne E. J and Wijnen, Juul and Gómez García, Encarna B and Nelen, Marcel R and Kets, C. Marleen and Seynaeve, Caroline and Tilanus-Linthorst, Madeleine M. A and van der Luijt, Rob B and van Os, Theo and Rookus, Matti and Frost, Debra and Jones, J. Louise and Evans, D. Gareth and Lalloo, Fiona and Eeles, Ros and Izatt, Louise and Adlard, Julian and Davidson, Rosemarie and Cook, Jackie and Donaldson, Alan and Dorkins, Huw and Gregory, Helen and Eason, Jacqueline and Houghton, Catherine and Barwell, Julian and Side, Lucy E and McCann, Emma and Murray, Alex and Peock, Susan and Godwin, Anew K and Schmutzler, Rita K and Rhiem, Kerstin and Engel, Christoph and Meindl, Alfons and Ruehl, Ina and Arnold, Norbert and Niederacher, Dieter and Sutter, Christian and Deissler, Helmut and Gadzicki, Dorothea and Kast, Karin and Preisler-Adams, Sabine and Varon-Mateeva, Raymonda and Schoenbuchner, Ines and Fiebig, Britta and Heinritz, Wolfram and Schäfer, Dieter and Gevensleben, Heiun and Caux-Moncoutier, Virginie and Fassy-Colcombet, Marion and Cornelis, François and Mazoyer, Sylvie and Léoné, Mélanie and Boutry-Kryza, Nadia and Hardouin, Agnès and Berthet, Pascaline and Muller, Danièle and Fricker, Jean-Pierre and Mortemousque, Isabelle and Pujol, Pascal and ... and Ontario Canc Genetics Network and kConFab Investigators and EMBRACE and GEMO Study Collaborators and CIMBA and HEBON and Breast Canc Family Registry and SWE-BRCA and Ontario Cancer Genetics Network and Breast Cancer Family Registry and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Östergötlands Läns Landsting and Onkologi and Hälsouniversitetet
Breast cancer research, ISSN 1465-5411, 2011, Volume 13, Issue 6, pp. R110 - R110
Journal Article
by Ding, Yuan C and McGuffog, Lesley and Healey, Sue and Friedman, Eitan and Laitman, Yael and Paluch-Shimon, Shani and Kaufman, Bella and Liljegren, Annelie and Lindblom, Annika and Olsson, Håkan and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Melin, Beatrice and Domchek, Susan M and Nathanson, Katherine L and Rebbeck, Timothy R and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Gronwald, Jacek and Huzarski, Tomasz and Cybulski, Cezary and Byrski, Tomasz and Osorio, Ana and Cajal, Teresa Ramóny and Stavropoulou, Alexana V and Benítez, Javier and Hamann, Ute and Rookus, Matti and Aalfs, Cora M and de Lange, Judith L and Meijers-Heijboer, Hanne E. J and Oosterwijk, Jan C and van Asperen, Christi J and Gómez García, Encarna B and Hoogerbrugge, Nicoline and Jager, Agnes and van der Luijt, Rob B and Easton, Douglas F and Peock, Susan and Frost, Debra and Ellis, Steve D and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Izatt, Louise and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Brewer, Carole and Tischkowitz, Marc and Godwin, Anew K and Pathak, Harsh and Stoppa-Lyonnet, Dominique and Sinilnikova, Olga M and Mazoyer, Sylvie and Barjhoux, Laure and Léoné, Mélanie and Gauthier-Villars, Marion and Caux-Moncoutier, Virginie and de Pauw, Antoine and Hardouin, Agnès and Berthet, Pascaline and yfus, Hélène and Ferrer, Sana Fert and Collonge-Rame, Marie-Agnès and Sokolowska, Johanna and Buys, Sauna and Daly, Mary and Miron, Alex and Terry, Mary Beth and Chung, Wendy and John, Esther M and Southey, Melissa and Goldgar, David and Singer, Christian F and tea, Muy-Kheng Maria and Gschwantler-Kaulich, Daphne and Fink-Retter, Anneliese and Hansen, Thomas V. O and Ejlertsen, Bent and Johannsson, Oskar T and Offit, Kenneth and Sarrel, Kara and Gaudet, Mia M and Vijai, Joseph and Robson, Mark and Piedmonte, Marion R and Anews, Lesley and Cohn, David and DeMars, Leslie R and DiSilvestro, Paul and Roiguez, Gustavo and Toland, Amanda Ewart and Montagna, Marco and ... and KConFab Investigators and EMBRACE and GEMO Study Collaborators and Consortium Investigators Modifiers and HEBON and OCGN and SWE-BRCA and Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and for EMBRACE and for HEBON and on behalf of Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and for GEMO Study Collaborators and for KConFab Investigators and for SWE-BRCA and for OCGN and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Östergötlands Läns Landsting and Onkologi and Hälsouniversitetet
Cancer epidemiology, biomarkers & prevention, ISSN 1055-9965, 2012, Volume 21, Issue 8, pp. 1362 - 1370
Journal Article
by Ramus, Susan J and Antoniou, Antonis C and Kuchenbaecker, Karoline B and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Sinilnikova, Olga M and Healey, Sue and Barrowdale, Daniel and Lee, Anew and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A and Jensen, Uffe Birk and Skytte, Anne-Bine and Caligo, Maria A and Liljegren, Annelie and Lindblom, Annika and Olsson, Håkan and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Melin, Beatrice and Domchek, Susan M and Nathanson, Katherine L and Rebbeck, Timothy R and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Złowocka, Elżbieta and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Toloczko-Grabarek, Aleksana and Osorio, Ana and Benitez, Javier and Duran, Mercedes and Tejada, Maria-Isabel and Hamann, Ute and Rookus, Matti and van Leeuwen, Flora E and Aalfs, Cora M and Meijers-Heijboer, Hanne E. J and van Asperen, Christi J and van Roozendaal, K. E. P and Hoogerbrugge, Nicoline and Collée, J. Margriet and Kriege, Mieke and van der Luijt, Rob B and Peock, Susan and Frost, Debra and Ellis, Steve D and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J and Walker, Lisa and Porteous, Mary E and Kennedy, M. John and Pathak, Harsh and Godwin, Anew K and Stoppa-Lyonnet, Dominique and Caux-Moncoutier, Virginie and de Pauw, Antoine and Gauthier-Villars, Marion and Mazoyer, Sylvie and Léoné, Mélanie and Calender, Alain and Lasset, Christine and Bonadona, Valérie and Hardouin, Agnès and Berthet, Pascaline and Bignon, Yves-Jean and Uhrhammer, Nancy and Faivre, Laurence and Loustalot, Catherine and Buys, Sauna and Daly, Mary and Miron, Alex and Terry, Mary Beth and Chung, Wendy K and John, Esther M and Southey, Melissa and Goldgar, David and Singer, Christian F and tea, Muy-Kheng and ... and EMBRACE and GEMO and HEBON and kConFab and OCGN and SWE-BRCA and Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Östergötlands Läns Landsting and Onkologi and Hälsouniversitetet
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 4, pp. 690 - 702
Journal Article